The current study aimed to compare differences in the cognitive development of children with and without upper limb motor disorders. The study involved 89 children from 3 to 15 years old; 57 children with similar upper limb motor disorders and 32 healthy children. Our results showed that motor disorders could impair cognitive functions, especially memory. In particular, we found that children between 8 and 11 years old with upper limb disorders differed significantly from their healthy peers in both auditory and visual memory scales. These results can be explained by the fact that the development of cognitive functions depends on the normal development of motor skills, and the developmental delay of motor skills affects cognitive functions. Correlation analysis did not reveal any significant relationship between other cognitive functions (attention, thinking, intelligence) and motor function. Altogether, these findings point to the need to adapt general habilitation programs for children with motor disorders, considering the cognitive impairment during their development. The evaluation of children with motor impairment is often limited to their motor dysfunction, leaving their cognitive development neglected. The current study showed the importance of cognitive issues for these children. Moreover, early intervention, particularly focused on memory, can prevent some of the accompanying difficulties in learning and daily life functioning of children with movement disorders.

Evolutionary conserved NTE gene is important for survival and functioning of nervous system cells, its dysfunction leads to various pathologies. Here we describe characteristics of different disorders induced by NTE protein activity inhibition (OPIDN) or by NTE gene mutations: hereditary spastic paraplegia (SPG39), Boucher-Neuhaüser, Gordon Holmes, Laurence-Moon, Oliver-McFarlane syndromes, Leber congenital amaurosis, pure cerebellar ataxia. Current review summarises accumulated data about clinical features of NTE associated diseases, presenting them in a historical way of biomedical studies, and observes molecular and genetic causes of these disorders.

Arthrogryposis multiplex congenita (AMC) and obstetrical brachial plexus palsy (OBPP) are motor disorders with similar symptoms (contractures and the disturbance of upper limb function). Both conditions present as flaccid paresis but differ from each other in the pathogenesis: AMC is a congenital condition, while OBPP results from trauma during childbirth. Despite this difference, these diseases are identical in terms of their manifestations and treatment programmes. We compared the cognitive skills of children with AMC and OBPP diagnoses with those of healthy children; we also compared the motor skills of impaired children with those of healthy ones. The patients in both groups significantly differed from the healthy children with regard to psychological parameters, such as ‘visual memory capacity’ and ‘thinking’. Moreover, the two groups with children with AMC and OBPP significantly differed from each other in motor skill parameters, such as ‘delayed motor development’, ‘general motor development’, and the ‘level of paresis’. Upper limb motor function in the OBPP children was less impaired compared to that of the AMC children. However, we did not find any significant differences in cognitive deficits between the AMC children and the OBPP children. This may indicate that motor impairment is more significant than the underlying cause for the development of cognitive impairment; however, the factors causing this phenomenon require further study (e.g., social environment, treatment, and rehabilitation programme).

Особенности электрофизиологической активности коры больших полушарий мозга у детей с артрогрипозом

Pathogenic variants in the FKBP10 gene lead to a spectrum of rare autosomal recessive phenotypes, including osteogenesis imperfecta (OI) Type XI, Bruck syndrome Type I (BS I), and the congenital arthrogryposis-like phenotype (AG), each with variable clinical manifestations that are crucial for diagnosis. This study analyzed the clinical-genetic characteristics of patients with these conditions, focusing on both known and newly identified FKBP10 variants. We examined data from 15 patients, presenting symptoms of OI and joint contractures. Diagnostic methods included genealogical analysis, clinical assessments, radiography, whole exome sequencing, and direct automated Sanger sequencing. We diagnosed 15 patients with phenotypes due to biallelic FKBP10 variants—4 with OI Type XI, 10 with BS I, and 1 with the AG-like phenotype—demonstrating polymorphism in disease severity. Ten pathogenic FKBP10 variants were identified, including three novel ones, c.1373C>T (p.Pro458Leu), c.21del (p.Pro7fs), and c.831_832insCG (p.Gly278Argfs), and a recurrent variant, c.831dup (p.Gly278Argfs). Variant c.1490G>A (p.Trp497Ter) was found in two unrelated patients, causing OI XI in one and BS I in the other. Additionally, two unrelated patients with BS I and epidermolysis bullosa shared identical homozygous FKBP10 and KRT14 variants. This observation illustrates the diversity of FKBP10-related pathology and the importance of considering the full spectrum of phenotypes in clinical diagnostics.

Background. The LoeysDietz syndrome is a rare autosomal dominant connective tissue disorder characterized by the pathology of the cardiovascular system in combination with various anomalies of the musculoskeletal system. In modern literature, there is neither any information about the frequency of pathology nor any algorithm of examination and treatment for patients with this syndrome. Clinical case. The article presents a clinical observation of a 7-year-old patient with LoeysDietz syndrome with a genetically confirmed diagnosis. Discussion. This article provided a literature review, examined diagnosis issues and differential diagnosis, and presented the clinical picture of the syndrome. The main symptoms of LoeysDietz syndrome are artery aneurysms (most often in the aortic root), arterial tortuosity (mainly the vessels of the neck), hypertelorism, and bifid (split) or broad uvula. However, the combination of these symptoms is not found in all patients with this disease. Conclusions. The article emphasized the importance of a genetic verification of the disease, as well as a multidisciplinary approach to treatment with mandatory dynamic monitoring by specialists such as a cardiologist, neurologist, orthopedist, and pediatrician, which help prevent the development of complications and increase the life expectancy of this group of patients.